|(C;C)||3.2||5.9x risk for AMD; higher mortality among nonagenarians|
|(C;T)||2.5||2.5x risk for AMD; higher mortality among nonagenarians|
|(T;T)||1.6||lower risk for AMD, generally longer live than (C) allele carriers|
rs1061170 is a SNP in the complement factor H CFH gene; it is also known as Tyr402His or p.Y402H. The rs1061170(T) allele encodes the more common Tyr (Y), while the generally rarer rs1061170(C) encodes the His (H).
In a 4 year study of longevity of 491 nonagenarians in the Finnish Vitality 90+ study, risk factor-adjusted mortality was significantly higher among the rs1061170(C) carriers compared to non-carriers (odds ratio 1.78, CI 1.19-2.67, p = 0.005), and the survival curves of these carriers and non-carriers deviated significantly (p = 0.016). In other words, in this study, rs1061170(T;T) individuals generally lived longer than (C) allele carriers. [PMID 19000922]
[PMID 19399715] Impact of interacting functional variants in COMT on regional gray matter volume in human brain
[PMID 19680273] ARMS2/HTRA1 and CFH polymorphisms are not associated with choroidal neovascularization in highly myopic eyes of the elderly Japanese population
[PMID 19692124] Complement Factor H Y402H and C-Reactive Protein Polymorphism and Photodynamic Therapy Response in Age-Related Macular Degeneration
[PMID 19797206] Susceptibility genes and progression in age-related maculopathy - a study of single eyes. The prospective Muenster Ageing and Retina Study (MARS)
[PMID 19899988] Association of c3 gene polymorphisms with neovascular age-related macular degeneration in a chinese population
[PMID 20132989] Phenotype and Genotype Characteristics of Age-related Macular Degeneration in a Japanese Population
|Trait||Age-related macular degeneration|
|Title||Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC)|
|Odds Ratio||None None|
[PMID 20678803] Complement Factor H and High-Temperature Requirement A-1 Genotypes and Treatment Response of Age-related Macular Degeneration
[PMID 20688737] Joint Effect of Cigarette Smoking, CFH and LOC387715/HTRA1 Polymorphisms on Polypoidal Choroidal Vasculopathy
[PMID 20708732] Genetic variation in complement factor H and risk of coronary heart disease: Eight new studies and a meta-analysis of around 48,000 individuals
[PMID 20843825] An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD)
|Title||Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.|
|Odds Ratio||2.4100 [NR]|
[PMID 21825189] Complement Factor H 402H Variant and Reticular Macular Disease
[PMID 21882633] [Influence of genetic mutations on clinical presentation of subretinal neovascularization. Report 1: The impact of CFH and IL-8 genes polymorphism]
[PMID 21871809] Complement Factor H Y402H polymorphism is associated with an increased risk of mortality after intracerebral hemorrhage
[PMID 22019782] A rare penetrant mutation in CFH confers high risk of age-related macular degeneration
[PMID 22197220] Cigarette smoking strongly modifies the association of complement factor H variant and the risk of lung cancer
[PMID 22253316] Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype
[PMID 21913742] Genetic predictors of response to photodynamictherapy
[PMID 22509112] Genetic associations in polypoidal choroidal vasculopathy: A systematic review and meta-analysis
[PMID 22552255] Retinal function and CFH-ARMS2 polymorphisms analysis: a pilot study in Italian AMD patients
[PMID 22558131] Comprehensive Analysis of Copy Number Variation of Genes at Chromosome 1 and 10 Loci Associated with Late Age Related Macular Degeneration
[PMID 22666427] Modelling the Genetic Risk in Age-Related Macular Degeneration
[PMID 22699975] Genetic analysis of simultaneous geographic atrophy and choroidal neovascularization
|Disease||Age-related macular degeneration 4 Basal laminar drusen Macular degeneration Mesangiocapillary glomerulonephritis Atypical hemolytic uremic syndrome|
|CLNDBN||Age-related macular degeneration 4 Basal laminar drusen Macular degeneration Mesangiocapillary glomerulonephritis, type II Atypical hemolytic uremic syndrome|
|CLNSRC||OMIM Allelic Variant|
|CLNACC||RCV000018015.5, RCV000018016.31, RCV000296616.1, RCV000327040.1, RCV000349294.1, RCV000388493.1,|
[PMID 15761122] Complement factor H polymorphism in age-related macular degeneration.
[PMID 16080115] Susceptibility genes for age-related maculopathy on chromosome 10q26.
[PMID 16519819] Analysis of polymorphisms in 16 genes in type 1 diabetes that have been associated with other immune-mediated diseases.
[PMID 16630992] A common polymorphism in the complement factor H gene is associated with increased risk of myocardial infarction: the Rotterdam Study.
[PMID 16642439] Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration.
[PMID 16723442] A prospective assessment of the Y402H variant in complement factor H, genetic variants in C-reactive protein, and risk of age-related macular degeneration.
[PMID 16828512] Complement factor H increases risk for atrophic age-related macular degeneration.
[PMID 16865697] Ethnic variation in AMD-associated complement factor H polymorphism p.Tyr402His.
[PMID 16936733] CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration.
[PMID 17022693] Determination of complement factor H functional polymorphisms (V62I, Y402H, and E936D) using sequence-specific primer PCR and restriction fragment length polymorphisms.
[PMID 17210853] Neovascular age-related macular degeneration and its association with LOC387715 and complement factor H polymorphism.
[PMID 17327825] An update on the genetics of age-related macular degeneration.
[PMID 17591627] Complement factor H and hemicentin-1 in age-related macular degeneration and renal phenotypes.
[PMID 17697822] Usefulness of combining complement factor H and C-reactive protein genetic profiles for predicting myocardial infarction (from the Rotterdam Study).
[PMID 17877809] Genetic variants of complement factor H gene are not associated with premature coronary heart disease: a family-based study in the Irish population.
[PMID 17917691] Genetic markers and biomarkers for age-related macular degeneration.
[PMID 17940599] Assembly of inflammation-related genes for pathway-focused genetic analysis.
[PMID 17962488] Coding and noncoding variants in the CFH gene and cigarette smoking influence the risk of age-related macular degeneration in a Japanese population.
[PMID 18043728] Haplotypes in the complement factor H (CFH) gene: associations with drusen and advanced age-related macular degeneration.
[PMID 18067970] Peripheral reticular pigmentary change is associated with complement factor H polymorphism (Y402H) in age-related macular degeneration.
[PMID 18081690] Translational mini-review series on complement factor H: genetics and disease associations of human complement factor H.
[PMID 18162041] Neovascular age-related macular degeneration risk based on CFH, LOC387715/HTRA1, and smoking.
[PMID 18248681] Prevalence of common disease-associated variants in Asian Indians.
[PMID 18378209] Vascular endothelial growth factor gene polymorphisms in age-related macular degeneration.
[PMID 18423869] CFH and LOC387715/ARMS2 genotypes and treatment with antioxidants and zinc for age-related macular degeneration.
[PMID 18436811] Variants in the 10q26 gene cluster (LOC387715 and HTRA1) exhibit enhanced risk of age-related macular degeneration along with CFH in Indian patients.
[PMID 18493315] C2 and CFB genes in age-related maculopathy and joint action with CFH and LOC387715 genes.
[PMID 18515590] Association analysis of CFH, C2, BF, and HTRA1 gene polymorphisms in Chinese patients with polypoidal choroidal vasculopathy.
[PMID 18541031] The NEI/NCBI dbGAP database: genotypes and haplotypes that may specifically predispose to risk of neovascular age-related macular degeneration.
[PMID 18682812] Association of CFH, LOC387715, and HTRA1 polymorphisms with exudative age-related macular degeneration in a northern Chinese population.
[PMID 19026761] Molecular pathology of age-related macular degeneration.
[PMID 19074778] Combined effects of complement factor H genotypes, fish consumption, and inflammatory markers on long-term risk for age-related macular degeneration in a cohort.
[PMID 19076828] Genetics of C-reactive protein and complement factor H have an epistatic effect on carotid artery compliance: the Cardiovascular Risk in Young Finns Study.
[PMID 19077177] Genetic variability within the innate immune system influences personality traits in women.
[PMID 19091853] Pharmacogenetics of complement factor H (Y402H) and treatment of exudative age-related macular degeneration with ranibizumab.
[PMID 19169232] Variations in five genes and the severity of age-related macular degeneration: results from the Muenster aging and retina study.
[PMID 19187590] Genetic variants in three genes and smoking show strong associations with susceptibility to exudative age-related macular degeneration in a Chinese population.
[PMID 19187823] Coding variant I62V in the complement factor H gene is strongly associated with polypoidal choroidal vasculopathy.
[PMID 19202148] Assessing susceptibility to age-related macular degeneration with proteomic and genomic biomarkers.
[PMID 19226183] Donor-derived brain tumor following neural stem cell transplantation in an ataxia telangiectasia patient.
[PMID 19259132] Multilocus analysis of age-related macular degeneration.
[PMID 19381347] Single nucleotide polymorphisms of the tenomodulin gene (TNMD) in age-related macular degeneration.
[PMID 19661236] Plasma complement components and activation fragments: associations with age-related macular degeneration genotypes and phenotypes.
[PMID 19779542] A genome-wide association analysis identified a novel susceptible locus for pathological myopia at 11q24.1.
[PMID 19806217] rs5888 variant of SCARB1 gene is a possible susceptibility factor for age-related macular degeneration.
[PMID 19823576] CFH, C3 and ARMS2 are significant risk loci for susceptibility but not for disease progression of geographic atrophy due to AMD.
[PMID 19861685] Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome.
[PMID 19958499] A particle swarm based hybrid system for imbalanced medical data sampling.
[PMID 20157352] Genetic analysis of typical wet-type age-related macular degeneration and polypoidal choroidal vasculopathy in Japanese population.
[PMID 20157618] Complement component 3: an assessment of association with AMD and analysis of gene-gene and gene-environment interactions in a Northern Irish cohort.
[PMID 20339564] Risk factors for age-related maculopathy.
[PMID 20346514] C-reactive protein and CFH, ARMS2/HTRA1 gene variants are independently associated with risk of macular degeneration.
[PMID 20378180] Three major loci involved in age-related macular degeneration are also associated with polypoidal choroidal vasculopathy.
[PMID 20664795] R102G polymorphism of the C3 gene associated with exudative age-related macular degeneration in a French population.
[PMID 20689796] Monozygotic twins with polypoidal choroidal vasuculopathy.
[PMID 21111031] Correlation of complement factor H gene polymorphisms with exudative age-related macular degeneration in a Chinese cohort.
[PMID 21402993] Assessing susceptibility to age-related macular degeneration with genetic markers and environmental factors.
[PMID 21455292] Using genetic variation and environmental risk factor data to identify individuals at high risk for age-related macular degeneration.
[PMID 21498607] Identification of urinary biomarkers for age-related macular degeneration.
[PMID 21558292] CFH, VEGF and HTRA1 promoter genotype may influence the response to intravitreal ranibizumab therapy for neovascular age-related macular degeneration.
[PMID 21609242] Age-related macular degeneration-susceptibility single nucleotide polymorphisms in a han chinese control population.
[PMID 21878851] Association between high-risk disease loci and response to anti-vascular endothelial growth factor treatment for wet age-related macular degeneration.
[PMID 22293892] A69S and R38X ARMS2 and Y402H CFH gene polymorphisms as risk factors for neovascular age-related macular degeneration in Poland - a brief report.
[PMID 22618592] Association of genetic polymorphisms and age-related macular degeneration in chinese population.
|Title||Heritability and Genome-Wide Association Study to Assess Genetic Differences between Advanced Age-Related Macular Degeneration Subtypes.|
|Odds Ratio||2.7800 None|
[PMID 22977134] Single nucleotide polymorphism in the cholesterol-24S-hydroxylase (CYP46A1) gene and its association with CFH and LOC387715 gene polymorphisms in AMD
[PMID 23337555] Pharmacogenetics for Genes Associated with Age-Related Macular Degeneration in the Comparison of AMD Treatments Trials (CATT)
[PMID 23111182] Prevalence and genomic association of reticular pseudodrusen in age-related macular degeneration
[PMID 23302509] Mitochondrial DNA haplogroups confer differences in risk for age-related macular degeneration: a case control study
[PMID 23098369] ARMS2 increases the risk of early and late age-related macular degeneration in the European Eye Study
[PMID 23582991] Genetic Influences on the Outcome of Anti-Vascular Endothelial Growth Factor Treatment in Neovascular Age-related Macular Degeneration
[PMID 23596508] Alterations of Choroidal Blood Flow Regulation in Young Healthy Subjects with Complement Factor H Polymorphism
[PMID 23919682] Complement alternative pathway genetic variation and Dengue infection in the Thai population
[PMID 24080590] Genetic Association with Response to Intravitreal Ranibizumab for Neovascular Age-Related Macular Degeneration in the Han Chinese Population
[PMID 24332537] Incidence and Progression of Reticular Drusen in Age-Related Macular Degeneration: Findings from an Older Australian Cohort
[PMID 22875704] Complement factor H genotypes impact risk of age-related macular degeneration by interaction with oxidized phospholipids.
[PMID 22936692] Can genetic associations change with age? CFH and age-related macular degeneration.
[PMID 23103884] Age-related macular degeneration and coronary heart disease: evaluation of genetic and environmental associations.
[PMID 23204795] Pharmacogenetic influence of LOC387715/HTRA1 on the efficacy of bevacizumab treatment for age-related macular degeneration in a Korean population.
[PMID 23289807] Gene-gene interactions of CFH and LOC387715/ARMS2 with Korean exudative age-related macular degeneration patients.
[PMID 23289808] The association of age-related maculopathy susceptibility 2 (ARMS2) and complement factor H (CFH) variants with two angiographic subtypes of polypoidal choroidal vasculopathy.
[PMID 23497844] Association of complement factor H tyrosine 402 histidine genotype with posterior involvement in sarcoid-related uveitis.
[PMID 23662819] Complement polymorphisms and cognitive dysfunction after carotid endarterectomy.
[PMID 23797962] Adrenomedullin Signaling Pathway Polymorphisms and Adverse Pregnancy Outcomes.
[PMID 24863099] Flicker-induced retinal vasodilatation is not dependent on complement factor H polymorphism in healthy young subjects
[PMID 24970616] The contribution of genetic factors to phenotype and progression of drusen in early age-related macular degeneration
[PMID 24067115] Functional effect of Saffron supplementation and risk genotypes in early age-related macular degeneration: a preliminary report
[PMID 25612476] Investigating the CFH Gene Polymorphisms as a Risk Factor for Age-related Macular Degeneration in an Iranian Population
[PMID 25742403] CFH Y402H polymorphism and response to intravitreal Ranibizumab in brazilian patients with neovascular age-related macular degeneration
[PMID 25811666] Novel association of FCGR2A polymorphism with age-related macular degeneration (AMD) and development of a novel CFH real-time genotyping method
[PMID 24974817] No clinically significant association between CFH and ARMS2 genotypes and response to nutritional supplements: AREDS report number 38
[PMID 25814824] CFH Y402H polymorphism is associated with elevated vitreal GM-CSF and choroidal macrophages in the postmortem human eye
[PMID 26116897] Pathway-Focused Genetic Evaluation of Immune and Inflammation Related Genes with Chronic Fatigue Syndrome
[PMID 26154559] The genetic variant rs4073 A→T of the Interleukin-8 promoter region is associated with the earlier onset of exudative age-related macular degeneration
[PMID 26217379] Ancestry of the Timorese: age-related macular degeneration associated genotype and allele sharing among human populations from throughout the world
[PMID 25596882] Genetic predictive biomarkers of anti-VEGF treatment response in patients with neovascular age-related macular degeneration
[PMID 26411831] Pharmacogenetics of Complement Factor H Y402H Polymorphism and Treatment of Neovascular AMD with Anti-VEGF Agents: A Meta-Analysis
[PMID 25627090] Age-related macular degeneration phenotypes associated with mutually exclusive homozygous risk variants in CFH and HTRA1 genes
[PMID 26681391] Reticular Pseudodrusen and Their Association with Age-Related Macular Degeneration: The Melbourne Collaborative Cohort Study.
[PMID 27099955] Single-Nucleotide Polymorphisms Associated With Age-Related Macular Degeneration and Lesion Phenotypes in the Comparison of Age-Related Macular Degeneration Treatments Trials.
[PMID 27116510] Effect of Risk Alleles in CFH, C3, and VEGFA on the Response to Intravitreal Bevacizumab in Tunisian Patients with Neovascular Age-related Macular Degeneration.
[PMID 27832277] Progression Rate From Intermediate to Advanced Age-Related Macular Degeneration Is Correlated With the Number of Risk Alleles at the CFH Locus.
[PMID 29259020] Genetic risk factors for late age-related macular degeneration in India.
[PMID 30996586] Screening of CRISPR/Cas base editors to target the AMD high-risk Y402H complement factor H variant.
[PMID 31916060] Investigation of genetic base in the treatment of age-related macular degeneration.
[PMID 32138827] Distribution of risk alleles in patients with age-related macular degeneration.